Variant report

Variant	esv1920345
Chromosome Location	chr7:101457367-101457368
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF3	chr7:101457363-101457672	K562	blood:	n/a	n/a
2	BACH1	chr7:101457199-101459068	H1-hESC	embryonic stem cell:	n/a	n/a
3	BCLAF1	chr7:101457355-101457766	GM12878	blood:	n/a	chr7:101457612-101457625 chr7:101457379-101457388 chr7:101457380-101457393 chr7:101457611-101457624
4	BHLHE40	chr7:101457347-101457733	A549	lung:	n/a	chr7:101457525-101457534 chr7:101457526-101457535 chr7:101457526-101457535
5	BHLHE40	chr7:101457090-101459369	K562	blood:	n/a	chr7:101457525-101457534 chr7:101459184-101459200 chr7:101459190-101459206 chr7:101457526-101457535 chr7:101457526-101457535
6	BHLHE40	chr7:101457327-101459370	HepG2	liver:	n/a	chr7:101457525-101457534 chr7:101459184-101459200 chr7:101459190-101459206 chr7:101457526-101457535 chr7:101457526-101457535
7	BHLHE40	chr7:101456922-101459373	GM12878	blood:	n/a	chr7:101457525-101457534 chr7:101459184-101459200 chr7:101459190-101459206 chr7:101457526-101457535 chr7:101457526-101457535
8	BRCA1	chr7:101456809-101458457	Hela-S3	cervix:	n/a	n/a
9	CBX3	chr7:101457349-101457748	K562	blood:	n/a	n/a
10	CBX3	chr7:101457037-101457798	K562	blood:	n/a	n/a
11	CEBPB	chr7:101456838-101458561	Hela-S3	cervix:	n/a	n/a
12	CHD2	chr7:101457335-101457865	Hela-S3	cervix:	n/a	n/a
13	CTCF	chr7:101457128-101457853	K562	blood:	n/a	chr7:101457575-101457593
14	CTCF	chr7:101457320-101457610	AG09309	skin:	n/a	chr7:101457575-101457593
15	CTCF	chr7:101457280-101457430	Hela-S3	cervix:	n/a	n/a
16	CTCF	chr7:101457363-101457760	HepG2	liver:	n/a	chr7:101457575-101457593
17	CTCF	chr7:101456694-101459803	SK-N-SH	brain:	n/a	chr7:101457575-101457593 chr7:101458936-101458949 chr7:101458934-101458952
18	CTCF	chr7:101457363-101457881	GM12878	blood:	n/a	chr7:101457575-101457593
19	CTCF	chr7:101457280-101457430	SAEC	small airway:	n/a	n/a
20	E2F1	chr7:101457304-101457760	Hela-S3	cervix:	n/a	chr7:101457380-101457389 chr7:101457590-101457599
21	E2F4	chr7:101456804-101457613	MCF10A-Er-Src	breast:	n/a	chr7:101457380-101457389 chr7:101457590-101457599
22	E2F4	chr7:101457358-101457859	K562	blood:	n/a	chr7:101457380-101457389 chr7:101457590-101457599
23	E2F6	chr7:101457288-101457743	A549	lung:	n/a	chr7:101457380-101457389 chr7:101457590-101457599
24	E2F6	chr7:101457289-101457976	K562	blood:	n/a	chr7:101457380-101457389 chr7:101457590-101457599
25	E2F6	chr7:101457172-101458704	A549	lung:	n/a	chr7:101457380-101457389 chr7:101457590-101457599
26	E2F6	chr7:101457187-101457825	H1-hESC	embryonic stem cell:	n/a	chr7:101457380-101457389 chr7:101457590-101457599
27	E2F6	chr7:101457279-101457897	H1-hESC	embryonic stem cell:	n/a	chr7:101457380-101457389 chr7:101457590-101457599
28	E2F6	chr7:101457071-101459583	K562	blood:	n/a	chr7:101457380-101457389 chr7:101459220-101459229 chr7:101459194-101459204 chr7:101457590-101457599 chr7:101459191-101459201 chr7:101459221-101459228
29	EBF1	chr7:101457307-101457881	GM12878	blood:	n/a	n/a
30	EGR1	chr7:101457368-101457767	K562	blood:	n/a	chr7:101457375-101457388 chr7:101457379-101457389 chr7:101457376-101457385 chr7:101457369-101457379 chr7:101457382-101457392 chr7:101457370-101457380
31	EGR1	chr7:101457347-101457685	K562	blood:	n/a	chr7:101457375-101457388 chr7:101457367-101457377 chr7:101457379-101457389 chr7:101457376-101457385 chr7:101457369-101457379 chr7:101457382-101457392 chr7:101457370-101457380
32	EGR1	chr7:101457024-101459052	HCT-116	colon:	n/a	chr7:101458877-101458887 chr7:101457375-101457388 chr7:101458876-101458889 chr7:101458680-101458690 chr7:101458876-101458889 chr7:101458875-101458890 chr7:101458685-101458694 chr7:101458680-101458690 chr7:101458871-101458881 chr7:101458674-101458696 chr7:101458876-101458889 chr7:101457367-101457377 chr7:101458680-101458691 chr7:101458678-101458692 chr7:101457379-101457389 chr7:101457376-101457385 chr7:101458877-101458886 chr7:101457369-101457379 chr7:101457382-101457392 chr7:101457370-101457380 chr7:101458680-101458691 chr7:101458679-101458692
33	ELF1	chr7:101457236-101457945	GM12878	blood:	n/a	chr7:101457613-101457625
34	ELF1	chr7:101457333-101457825	GM12878	blood:	n/a	chr7:101457613-101457625
35	ELF1	chr7:101457204-101457630	K562	blood:	n/a	chr7:101457613-101457625
36	EP300	chr7:101457123-101457800	K562	blood:	n/a	chr7:101457254-101457268 chr7:101457372-101457388 chr7:101457497-101457513
37	HA-E2F1	chr7:101457317-101457854	Hela-S3	cervix:	n/a	chr7:101457380-101457389 chr7:101457590-101457599
38	HDAC2	chr7:101457356-101458045	H1-hESC	embryonic stem cell:	n/a	n/a
39	HDAC2	chr7:101457185-101459451	MCF-7	breast:	n/a	chr7:101457255-101457269 chr7:101457254-101457268 chr7:101457253-101457267
40	HEY1	chr7:101457364-101457806	K562	blood:	n/a	chr7:101457591-101457606 chr7:101457526-101457535 chr7:101457611-101457626 chr7:101457602-101457617
41	HEY1	chr7:101457353-101458058	K562	blood:	n/a	chr7:101457591-101457606 chr7:101457526-101457535 chr7:101457611-101457626 chr7:101457602-101457617
42	JUN	chr7:101457148-101458186	K562	blood:	n/a	chr7:101457368-101457377 chr7:101457367-101457376
43	MAX	chr7:101457048-101459585	A549	lung:	n/a	chr7:101457525-101457536 chr7:101457381-101457391 chr7:101457369-101457379
44	MAX	chr7:101457206-101459051	MCF-7	breast:	n/a	chr7:101457525-101457536 chr7:101457381-101457391 chr7:101457369-101457379
45	MAX	chr7:101457126-101459496	K562	blood:	n/a	chr7:101457525-101457536 chr7:101457381-101457391 chr7:101457369-101457379
46	MAX	chr7:101457362-101458783	GM12878	blood:	n/a	chr7:101457525-101457536 chr7:101457381-101457391 chr7:101457369-101457379
47	MAX	chr7:101457335-101458998	K562	blood:	n/a	chr7:101457525-101457536 chr7:101457381-101457391 chr7:101457369-101457379
48	MAX	chr7:101457279-101458727	Hela-S3	cervix:	n/a	chr7:101457525-101457536 chr7:101457381-101457391 chr7:101457369-101457379
49	MAX	chr7:101457228-101458908	ECC-1	luminal epithelium:	n/a	chr7:101457525-101457536 chr7:101457381-101457391 chr7:101457369-101457379
50	MAX	chr7:101456994-101459550	HCT-116	colon:	n/a	chr7:101457525-101457536 chr7:101457381-101457391 chr7:101457369-101457379

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:101457359-101457409	NHBE	bronchial:	n/a
2	chr7:101457359-101457409	NHBE	bronchial:	n/a
3	chr7:101457359-101457409	LNCaP	prostate:	n/a
4	chr7:101457359-101457409	NH-A	brain:	n/a
5	chr7:101457359-101457409	GM19239	blood:	n/a
6	chr7:101457359-101457409	HIPEpiC	eye:	n/a
7	chr7:101457359-101457409	SAEC	small airway:	n/a
8	chr7:101457359-101457409	GM12878	blood:	n/a
9	chr7:101457359-101457409	GM12891	blood:	n/a
10	chr7:101457359-101457409	ProgFib	skin:	n/a
11	chr7:101457359-101457409	H1-hESC	embryonic stem cell:	embryo
12	chr7:101457359-101457409	AG09319	gingival:	n/a
13	chr7:101457359-101457409	ovcar-3	ovarian:	n/a
14	chr7:101457359-101457409	HRE	kidney:	n/a
15	chr7:101457359-101457409	Jurkat	blood:	n/a
16	chr7:101457359-101457409	HRCEpiC	kidney:	n/a
17	chr7:101457359-101457409	PANC-1	pancreas:	n/a
18	chr7:101457359-101457409	Hela-S3	cervix:	n/a
19	chr7:101457359-101457409	HEK293	kidney:	embryo
20	chr7:101457359-101457409	T-47D	breast:	n/a
21	chr7:101457359-101457409	HMEC	breast:	n/a
22	chr7:101457359-101457409	SKMC	muscle:	n/a
23	chr7:101457359-101457409	MCF10A-Er-Src	breast:	n/a
24	chr7:101457359-101457409	HCF	heart:	n/a
25	chr7:101457359-101457409	AoSMC	blood vessel:	n/a
26	chr7:101457359-101457409	HUVEC	blood vessel:	n/a
27	chr7:101457359-101457409	BE2_C	brain:	n/a
28	chr7:101457359-101457409	SK-N-SH	brain:	n/a
29	chr7:101457359-101457409	AG10803	skin:	n/a
30	chr7:101457359-101457409	PFSK-1	brain:	n/a
31	chr7:101457359-101457409	HEEpiC	esophagus:	n/a
32	chr7:101457359-101457409	GM06990	blood:	n/a
33	chr7:101457359-101457409	NT2-D1	testis:	n/a
34	chr7:101457359-101457409	U87	brain:	n/a
35	chr7:101457359-101457409	HepG2	liver:	n/a
36	chr7:101457359-101457409	Caco-2	colon:	n/a
37	chr7:101457359-101457409	CMK	blood:	n/a
38	chr7:101457359-101457409	HCM	heart:	n/a
39	chr7:101457359-101457409	NHDF-neo	bronchial:	n/a
40	chr7:101457359-101457409	AG04450	lung:	fetal
41	chr7:101457359-101457409	SK-N-SH_RA	brain:	n/a
42	chr7:101457359-101457409	AG09309	skin:	n/a
43	chr7:101457359-101457409	NB4	blood:	n/a
44	chr7:101457359-101457409	HPAEpiC	pulmonary alveolar:	n/a
45	chr7:101457359-101457409	A549	lung:	n/a
46	chr7:101457359-101457409	HNPCEpiC	eye:	n/a
47	chr7:101457359-101457409	PrEC	prostate:	n/a
48	chr7:101457359-101457409	AG04449	skin:	fetal
49	chr7:101457359-101457409	HAEpiC	amniotic membrane:	n/a
50	chr7:101457359-101457409	RPTEC	kidney:	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:101456296..101461488-chr7:101913983..101918398,7	MCF-7	breast:
2	chr7:101195035..101196752-chr7:101457071..101459067,2	MCF-7	breast:
3	chr7:101448496..101448999-chr7:101457160..101457885,2	MCF-7	breast:
4	chr7:101245091..101246357-chr7:101457101..101458459,9	MCF-7	breast:
5	chr7:101456865..101462678-chr7:101466062..101470276,9	MCF-7	breast:
6	chr7:101330663..101332938-chr7:101456021..101458863,3	K562	blood:
7	chr7:101457026..101461124-chr7:101554455..101559051,6	MCF-7	breast:
8	chr7:101451313..101452903-chr7:101455577..101457484,2	K562	blood:
9	chr7:101456128..101458480-chr7:101471279..101473363,2	K562	blood:
10	chr7:101331319..101332632-chr7:101457135..101458012,7	MCF-7	breast:
11	chr7:101455693..101458203-chr7:101915599..101917150,2	MCF-7	breast:
12	chr7:101331355..101332298-chr7:101457115..101458094,12	MCF-7	breast:
13	chr7:101331265..101332297-chr7:101457072..101458122,8	K562	blood:
14	chr7:101185071..101186578-chr7:101457268..101458103,4	MCF-7	breast:
15	chr1:6268950..6269450-chr7:101457184..101457840,2	MCF-7	breast:
16	chr11:134527652..134528152-chr7:101457119..101458073,2	K562	blood:
17	chr7:101338626..101341236-chr7:101455601..101457433,2	K562	blood:

Variant related genes	Relation type
CUX1	TF binding region
CUX1	CpG island
ENSG00000160963	chromatin interactions
ENSG00000259294	chromatin interactions
ENSG00000116251	chromatin interactions
ENSG00000257923	chromatin interactions

Extended variants
information (count: 0)
Associated
traits (count: 93 )

No data

Variant related diseases (count:93)

Disease	PMID	Source
Basal cell lymphoma	17170743	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Prostate cancer	16461572	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Malignant melanoma	17260012	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Chronic myeloid leukemia	21384125	CNVD
Bladder cancer	21909424	CNVD
Biliary cancer	19435499	CNVD
Myelofibrosis	22110671	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	16608533	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Liver carcinoma	19366792	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Adenocarcinoma	19607727	CNVD
Multiple myeloma	16461302	CNVD
Breast cancer	21858162	CNVD
Emphysema	19352772	CNVD
Effusion lymphoma	18079361	CNVD
Medulloblastoma	17653508	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Autism	19401682	CNVD
Neuroticism	17667963	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Prostate cancer	18632612	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21364760	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD
Cancer	19907438	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Melanoma	20877625	CNVD

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:101436800-101457400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr7:101456400-101457400	Enhancers	Small Intestine	intestine
3	chr7:101456600-101457400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
4	chr7:101456600-101457600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
5	chr7:101456800-101457400	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr7:101456800-101457400	Enhancers	Liver	Liver
7	chr7:101456800-101457400	Enhancers	Fetal Thymus	thymus
8	chr7:101456800-101459400	Active TSS	Duodenum Smooth Muscle	Duodenum
9	chr7:101456800-101460800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr7:101457000-101457400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
11	chr7:101457000-101457400	Enhancers	Primary T killer memory cells from peripheral blood	blood
12	chr7:101457000-101457400	Enhancers	Muscle Satellite Cultured Cells	--
13	chr7:101457000-101457400	Enhancers	HepG2	liver
14	chr7:101457000-101457600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr7:101457000-101457600	Active TSS	Stomach Smooth Muscle	stomach
16	chr7:101457000-101457600	Active TSS	HMEC	breast
17	chr7:101457000-101457600	Enhancers	Monocytes-CD14+_RO01746	blood
18	chr7:101457000-101457600	Active TSS	NHEK	skin
19	chr7:101457000-101457800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
20	chr7:101457000-101457800	Active TSS	GM12878-XiMat	blood
21	chr7:101457000-101458400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
22	chr7:101457000-101458400	Active TSS	Primary T helper cells PMA-I stimulated	--
23	chr7:101457000-101458800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr7:101457000-101458800	Flanking Active TSS	Dnd41	blood
25	chr7:101457000-101459400	Active TSS	Colon Smooth Muscle	Colon
26	chr7:101457000-101460200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr7:101457000-101461000	Active TSS	Brain Anterior Caudate	brain
28	chr7:101457000-101461000	Active TSS	Skeletal Muscle Male	skeletal muscle
29	chr7:101457000-101461200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr7:101457000-101461200	Active TSS	Breast Myoepithelial Primary Cells	Breast
31	chr7:101457000-101461200	Active TSS	Hela-S3	cervix
32	chr7:101457000-101461400	Active TSS	Ovary	ovary
33	chr7:101457000-101461600	Active TSS	Brain Angular Gyrus	brain
34	chr7:101457000-101461800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr7:101457000-101462000	Active TSS	Fetal Intestine Large	intestine
36	chr7:101457200-101457400	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr7:101457200-101457400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr7:101457200-101457400	Enhancers	Primary monocytes fromperipheralblood	blood
39	chr7:101457200-101457400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
40	chr7:101457200-101457400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr7:101457200-101457400	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
42	chr7:101457200-101457400	Bivalent Enhancer	Fetal Muscle Leg	muscle
43	chr7:101457200-101457400	Weak transcription	Placenta	Placenta
44	chr7:101457200-101457400	Flanking Active TSS	Fetal Stomach	stomach
45	chr7:101457200-101457400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
46	chr7:101457200-101457400	Flanking Active TSS	NH-A	brain
47	chr7:101457200-101457600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
48	chr7:101457200-101457600	Bivalent Enhancer	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr7:101457200-101457600	Active TSS	HUES6 Cell Line	embryonic stem cell
50	chr7:101457200-101457600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell

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